# Hipotireoidismo congênito

> Página oficial: https://raras.org/doenca/hipotireoidismo-congenito
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 442 — https://www.orpha.net/en/disease/detail/442
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

O hipotiroidismo congénito (HC) é definido como uma deficiência de hormona tireóidea presente ao nascimento.

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000
- **Padrão de herança**: Autosomal recessive

## Sinais e sintomas (166 fenótipos HPO)

- **Sonolência** — HPO: HP:0002329
- **Positividade do anticorpo anti-tireoperoxidase** — HPO: HP:0025379
- **Traços faciais grosseiros** — HPO: HP:0000280
- **Teste de descarga de perclorato positivo** — HPO: HP:0025482
- **Anormalidade da fisiologia da tireoide** — HPO: HP:0002926
- **Hiperbilirrubinemia conjugada** — HPO: HP:0002908
- **Hipoplasia do nervo óptico** — HPO: HP:0000609
- **Pescoço curto** — HPO: HP:0000470
- **Abdome protuberante** — HPO: HP:0001538
- **Grande para a idade gestacional** — HPO: HP:0001520
- **Hipotonia neonatal** — HPO: HP:0001319
- **Retrusão médio-facial** — HPO: HP:0011800
- **Hipófise posterior ectópica** — HPO: HP:0011755
- **Nível diminuído de ACTH circulante** — HPO: HP:0002920
- **Formato facial anormal** — HPO: HP:0001999
- **Hipoglicemia** — HPO: HP:0001943
- **Ausência de ossificação da epífise femoral capital** — HPO: HP:0008820
- **Mobilidade diminuída da coluna cervical** — HPO: HP:0004637
- **Nível diminuído de hormônio luteinizante circulante** — HPO: HP:0030344
- **Morfologia anormal do cerebelo** — HPO: HP:0001317
- **Desconforto respiratório** — HPO: HP:0002098
- **Ossificação epifisária atrasada** — HPO: HP:0002663
- **Secreção inapropriada de hormônio antidiurético** — HPO: HP:0031218
- **Testa proeminente** — HPO: HP:0011220
- **Dedo curto** — HPO: HP:0009381
- **Hipopituitarismo** — HPO: HP:0040075
- **Hipoplasia da hipófise anterior** — HPO: HP:0010627
- **Concentração diminuída de hormônio folículo-estimulante circulante** — HPO: HP:0030341
- **Polidactilia da mão** — HPO: HP:0001161
- **Nanismo hipofisário** — HPO: HP:0000839
- **Hipogonadismo hipogonadotrófico** — HPO: HP:0000044
- **Sonolência diurna excessiva** — HPO: HP:0001262
- **Resultado anormal do teste de captação de iodo radioativo** — HPO: HP:0031221
- **Pigmentação mosqueada** — HPO: HP:0001070
- **Fácies lunar** — HPO: HP:0500011
- **Gravidez pós-termo** — HPO: HP:0031169
- **Agenesia do corpo caloso** — HPO: HP:0001274
- **Resposta diminuída ao teste de estímulo do hormônio do crescimento** — HPO: HP:0000824
- **Pan-hipopituitarismo** — HPO: HP:0000871
- **Forame oval patente** — HPO: HP:0001655
- _...e mais 126 sintomas. Ver https://raras.org/doenca/hipotireoidismo-congenito._

## Genes associados (25)

- **SLC26A4** — Pendrin [Disease-causing germline mutation(s) in]
  - Função: Sodium-independent transporter of chloride and iodide (PubMed:10192399, PubMed:11932316, PubMed:12107249, PubMed:16684826, PubMed:24051746). Mediates electroneutral chloride-bicarbonate, chloride-iodi
- **HESX1** — Homeobox expressed in ES cells 1 [Candidate gene tested in]
  - Função: Required for the normal development of the forebrain, eyes and other anterior structures such as the olfactory placodes and pituitary gland. Possible transcriptional repressor. Binds to the palindromi
- **POU1F1** — Pituitary-specific positive transcription factor 1 [Candidate gene tested in]
  - Função: Transcription factor involved in the specification of the lactotrope, somatotrope, and thyrotrope phenotypes in the developing anterior pituitary. Specifically binds to the consensus sequence 5'-TAAAT
- **LHX3** — LIM/homeobox protein Lhx3 [Candidate gene tested in]
  - Função: Transcription factor. Recognizes and binds to the consensus sequence motif 5'-AATTAATTA-3' in the regulatory elements of target genes, such as glycoprotein hormones alpha chain CGA and visual system h
- **KCNJ10** — ATP-sensitive inward rectifier potassium channel 10 [Candidate gene tested in]
  - Função: May be responsible for potassium buffering action of glial cells in the brain (By similarity). Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow in
- **FOXI1** — Forkhead box protein I1 [Candidate gene tested in]
  - Função: Transcriptional activator required for the development of normal hearing, sense of balance and kidney function. Required for the expression of SLC26A4/PDS, JAG1 and COCH in a subset of epithelial cell
- **PROP1** — Homeobox protein prophet of Pit-1 [Candidate gene tested in]
  - Função: Possibly involved in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and caudomedial thyrotropes
- **TRH** — Pro-thyrotropin-releasing hormone [Candidate gene tested in]
  - Função: As a component of the hypothalamic-pituitary-thyroid axis, it controls the secretion of thyroid-stimulating hormone (TSH) and is involved in thyroid hormone synthesis regulation. It also operates as m
- **LHX4** — LIM/homeobox protein Lhx4 [Candidate gene tested in]
  - Função: May play a critical role in the development of respiratory control mechanisms and in the normal growth and maturation of the lung. Binds preferentially to methylated DNA (PubMed:28473536)
- **IYD** — Iodotyrosine deiodinase 1 [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the dehalogenation of halotyrosines such as 3-bromo-L-tyrosine, 3-chloro-L-tyrosine, 3-iodo-L-tyrosine and 3,5-diiodo-L-tyrosine (PubMed:15289438, PubMed:18434651, PubMed:25395621, PubMed:28
- **TBL1X** — F-box-like/WD repeat-containing protein TBL1X [Disease-causing germline mutation(s) in]
  - Função: F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units (PubMed:14980219). Plays an essential role in transcription act
- **TRHR** — Thyrotropin-releasing hormone receptor [Disease-causing germline mutation(s) in]
  - Função: Receptor for thyrotropin-releasing hormone (TRH). Upon ligand binding, this G-protein-coupled receptor triggers activation of the phosphatidylinositol (IP3)-calcium-protein kinase C (PKC) pathway
- **IGSF1** — Immunoglobulin superfamily member 1 [Disease-causing germline mutation(s) in]
  - Função: Seems to be a coreceptor in inhibin signaling, but seems not to be a high-affinity inhibin receptor. Antagonizes activin A signaling in the presence or absence of inhibin B (By similarity). Necessary
- **DUOXA2** — Dual oxidase maturation factor 2 [Disease-causing germline mutation(s) in]
  - Função: Required for the maturation and transport of functional DUOX2 from the endoplasmic reticulum to the plasma membrane (PubMed:16651268). Recruits DUOX2 to the apical cell membrane (PubMed:39126279)
- **TPO** — Thyroid peroxidase [Disease-causing germline mutation(s) in]
  - Função: Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and T(4)

## Medicamentos em desenvolvimento (2)

- LEVOTHYROXINE SODIUM — Fase Phase 4 (Thyroid hormone receptor agonist)
- LEVOTHYROXINE — Fase Phase 3 (Thyroid hormone receptor agonist)
- Fonte: https://platform.opentargets.org/disease/MONDO_0018612

## Ensaios clínicos ativos (9)

- **NCT06724224** [RECRUITING]: Comparison of Levothyroxine Formulations in the Treatment of Congenital Hypothyroidism — https://clinicaltrials.gov/study/NCT06724224
- **NCT06728735** [RECRUITING]: Role of Next Generation Sequencing in the Etiological Diagnosis of Permanent Congenital Hypothyroidism With in Situ Thyroid — https://clinicaltrials.gov/study/NCT06728735
- **NCT07280104** [RECRUITING]: Infants With Primary Congenital Hypothyroidism and Development — https://clinicaltrials.gov/study/NCT07280104
- **NCT06864351** [RECRUITING]: Prospective Evaluation of OptiThyDose — https://clinicaltrials.gov/study/NCT06864351
- **NCT03655223** [ENROLLING_BY_INVITATION]: Early Check: Expanded Screening in Newborns — https://clinicaltrials.gov/study/NCT03655223
- **NCT06864039** [ENROLLING_BY_INVITATION]: Quality of Life and Long-term Outcome of Adequately Treated Congenital Hypothyroidism — https://clinicaltrials.gov/study/NCT06864039
- **NCT04288531** [ACTIVE_NOT_RECRUITING]: Iodine Impact on Thyroid Function and Psychomotor Development, Observational Study in the Portuguese Minho Region — https://clinicaltrials.gov/study/NCT04288531
- **NCT07425028** [NOT_YET_RECRUITING]: Evaluation of an Intensified Systematic Screening for Congenital Hypothyroidism in Premature Newborns — https://clinicaltrials.gov/study/NCT07425028
- **NCT07126353** [NOT_YET_RECRUITING]: Metabolic Risk Assessment in Prepubertal Children With Congenital Hypothyroidism — https://clinicaltrials.gov/study/NCT07126353
- **NCT05228184** [TERMINATED]: Use of Tirosint®-SOL or Tablet Formulations of Levothyroxine in Pediatric Patients With Congenital Hypothyroidism (CH) — https://clinicaltrials.gov/study/NCT05228184

## Centros de referência no Brasil (24)

- Hospital Universitário Prof. Edgard Santos (HUPES) (Salvador/BA)
- Hospital Infantil Albert Sabin (Fortaleza/CE)
- Hospital de Apoio de Brasília (HAB) (Brasília/DF)
- Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA) (Vila Velha/ES)
- Hospital das Clínicas da UFG (Goiânia/GO)
- Hospital Universitário da UFJF (Juiz de Fora/MG)
- Hospital das Clínicas da UFMG (Belo Horizonte/MG)
- Hospital Universitário Julio Müller (HUJM) (Cuiabá/MT)
- Hospital Universitário João de Barros Barreto (Belém/PA)
- Hospital Universitário Lauro Wanderley (HULW) (João Pessoa/PB)
- Instituto de Medicina Integral Prof. Fernando Figueira (IMIP) (Recife/PE)
- Hospital Pequeno Príncipe (Curitiba/PR)
- Hospital Universitário Regional de Maringá (HUM) (Maringá/PR)
- Hospital de Clínicas da UFPR (Curitiba/PR)
- Hospital Universitário Pedro Ernesto (HUPE-UERJ) (Rio de Janeiro/RJ)
- Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz) (Rio de Janeiro/RJ)
- Hospital São Lucas da PUCRS (Porto Alegre/RS)
- Hospital de Clínicas de Porto Alegre (HCPA) (Porto Alegre/RS)
- Hospital Universitário da UFSC (HU-UFSC) (Florianópolis/SC)
- Hospital das Clínicas da FMUSP (São Paulo/SP)

## Doenças relacionadas (por similaridade fenotípica)

- [Hipotireoidismo congênito permanente](https://raras.org/doenca/hipotireoidismo-congenito-permanente) — ORPHA:226292 — 110 sintomas em comum
- [Hipotireoidismo central](https://raras.org/doenca/hipotireoidismo-central) — ORPHA:226298 — 82 sintomas em comum
- [Deficiências combinadas de hormônios hipofisários, formas genéticas](https://raras.org/doenca/deficiencias-combinadas-de-hormonios-hipofisarios-formas-geneticas) — ORPHA:95494 — 51 sintomas em comum
- [Hipotireoidismo por deficiência nos fatores de transcrição envolvidos no desenvolvimento ou função da adenohipófise](https://raras.org/doenca/hipotireoidismo-por-deficiencia-nos-fatores-de-transcricao-envolvidos-no-desenvolvimento-ou-funcao-da-adenohipofise) — ORPHA:226307 — 50 sintomas em comum
- [Deficiência de hormônio estimulante da tireoide isolada](https://raras.org/doenca/deficiencia-de-hormonio-estimulante-da-tireoide-isolada) — ORPHA:90674 — 49 sintomas em comum
- [Hipotireoidismo congênito transitório](https://raras.org/doenca/hipotireoidismo-congenito-transitorio) — ORPHA:178045 — 47 sintomas em comum
- [Hipotireoidismo transitório congênito por fator materno](https://raras.org/doenca/hipotireoidismo-transitorio-congenito-por-fator-materno) — ORPHA:238696 — 46 sintomas em comum
- [Dishormonogênese da tireoide familiar](https://raras.org/doenca/dishormonogenese-da-tireoide-familiar) — ORPHA:95716 — 45 sintomas em comum
- [Resistência ao hormônio tireoidiano generalizada](https://raras.org/doenca/resistencia-ao-hormonio-tireoidiano-generalizada) — ORPHA:3221 — 36 sintomas em comum
- [Monossomia parcial do braço curto do cromossomo 1](https://raras.org/doenca/monossomia-parcial-do-braco-curto-do-cromossomo-1) — ORPHA:261857 — 30 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

---

**Citação sugerida**: Raras.org — Hipotireoidismo congênito. Disponível em: https://raras.org/doenca/hipotireoidismo-congenito
**Formato HTML**: https://raras.org/doenca/hipotireoidismo-congenito
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=442